Strategies for recruitment of relatives of <scp>BRCA</scp> mutation carriers to a genetic testing program in the Bahamas

Trottier, Magan; Lunn, John; Butler, Raleigh; Curling, D.; Turnquest, Theodore; Royer, Robert E.; Akbari, Mohammad Reza; Donenberg, Talia; Hurley, Judith; Narod, Steven A.

doi:10.1111/cge.12468

Cited by 24 publications

(28 citation statements)

References 7 publications

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“…In the Bahamas, Trottier et al reported that when the proband was the route of communication fewer than 20% of at risk relatives came for testing. 29 Consequently, it is important that future studies which evaluate genetic testing among underserved populations also address uptake of cancer risk management options and sharing of test results with family members in order for the full potential of genetic testing for BRCA1 and BRCA2 to be realized.…”

Section: Discussionmentioning

confidence: 99%

A high frequency of BRCA mutations in young black women with breast cancer residing in Florida

Pal

Bonner

Cragun

et al. 2015

Cancer

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PURPOSE Black women are disproportionately affected with triple negative breast cancer and have relatively poor survival. It is not known to what extent differences in clinical presentation of breast cancer in Non-Hispanic White (NHW) women and Black women can be accounted for by the presence of mutations in the BRCA1 and BRCA2 (BRCA) genes. We sought to evaluate the frequency of BRCA pathogenic variants in a population-based sample of young Black women with breast cancer. PATIENTS AND METHODS Black women diagnosed with invasive breast cancer at or before age 50 from 2009 to 2012 were recruited to the study through the Florida Cancer Registry. Participants underwent genetic counseling, completed a study questionnaire and consented to release of their medical records. Saliva specimens were collected for BRCA sequencing and large rearrangement testing through MLPA. RESULTS A DNA sample was evaluated for 396 women of whom 49 (12.4%) had a mutation in BRCA1 or BRCA2. Eight recurrent mutations accounted for 49% of all pathogenic variants. CONCLUSIONS The prevalence of BRCA mutations among our Florida-based sample of young Black women with breast cancer exceeds that previously reported for NHW women. It is appropriate to recommend BRCA testing in all young Black women with invasive breast cancer.

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Section: Discussionmentioning

confidence: 99%

A high frequency of BRCA mutations in young black women with breast cancer residing in Florida

Pal

Bonner

Cragun

et al. 2015

Cancer

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show abstract

“…For example, in a study of 115 patients with BRCA1/2 mutations, 77% of patients informed at least one relative about their genetic testing results, but only half of relatives underwent testing [12]. Other studies report that as few as 9% of atrisk relatives pursued testing [13,14]. Thus, identifying barriers to, and strategies to improve, CGT could improve cancer prevention.…”

Section: Introductionmentioning

confidence: 99%

Low rates of cascade genetic testing among families with hereditary gynecologic cancer: An opportunity to improve cancer prevention

Griffin

Buchanan

Smith

et al. 2020

Gynecologic Oncology

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“…The survey population included female residents in the Bahamas for whom a mutation had been detected by genetic testing through the course of several studies conducted between 2004 and 2012 (Akbari et al., ; Trottier et al., , ). When a mutation was identified in a family, genetic counseling and testing was offered to other at‐risk women in the family (Trottier et al., ). Women were recruited to these studies from public and private sources, including clinics in Freeport and Nassau in the Bahamas as described.…”

Section: Methodsmentioning

confidence: 99%

Short report: Follow‐up of Bahamian women with a BRCA1 or BRCA2 mutation

Narod

Butler²,

Bobrowski

et al. 2017

Molec Gen & Gen Med

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PurposeWe sought to determine to what extent the knowledge of carrying a BRCA1 or BRCA2 mutation influences the uptake of preventive surgeries in Bahamian women, including bilateral salpingo‐oophorectomy and bilateral mastectomy.Patients and methodsThe study population consisted of 78 female residents of the Bahamas for whom a BRCA1 or BRCA2 mutation had been detected between 2004 and 2014. The mean age of the 78 participants at the time of genetic testing was 46 years (age range 22–73 years). The mean time of follow‐up was 4.4 years.ResultsOf the 78 study participants, 19 women had a bilateral salpingo‐oophorectomy (24%). Seven out of 37 patients who had unilateral breast cancer chose to remove the unaffected contralateral breast (19%). Three of 13 patients with no history of breast cancer chose to have a prophylactic bilateral mastectomy (23%).ConclusionPreventive surgery is an acceptable option for a significant proportion of Bahamian women with a BRCA1 or BRCA2 mutation. It will be important to identify and reduce barriers to preventive surgery in the Bahamas in order that the benefit of getting testing can be fully realized.

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Strategies for recruitment of relatives of BRCA mutation carriers to a genetic testing program in the Bahamas

Cited by 24 publications

References 7 publications

A high frequency of BRCA mutations in young black women with breast cancer residing in Florida

A high frequency of BRCA mutations in young black women with breast cancer residing in Florida

Low rates of cascade genetic testing among families with hereditary gynecologic cancer: An opportunity to improve cancer prevention

Short report: Follow‐up of Bahamian women with a BRCA1 or BRCA2 mutation

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